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Mutations in
TARDBP
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1
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TARDBP Asn12
(g.36C>T)
Pathogenic nature unclear
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EX2
N-Term |
Luquin N, 2009
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2
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TARDBP Leu27
(g.81G>A)
Not pathogenic
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EX2
N-Term |
Kirby J, 2010
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3
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TARDBP Ser29
(g.87C>T)
Not pathogenic
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EX2
N-Term |
Corrado L, 2009
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4
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TARDBP Ala66
(g.198T>C)
Not pathogenic
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EX2
N-Term |
Gitcho MA, 2008
Kabashi E, 2008
Rutherford NJ, 2008
Daoud H, 2009
Corrado L, 2009
Del Bo R, 2009
Guerreiro RJ, 2009
Gijselinck I, 2009
Luquin N, 2009
Bäumer D, 2009
Kirby J, 2010
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5
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TARDBP Ala90Val
(g.3147C>T)
Pathogenic nature unclear
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EX3
N-Term |
Sreedharan J, 2008
Kabashi E, 2008
Winton MJ, 2008
Guerreiro RJ, 2009
Kirby J, 2010
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6
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TARDBP Ser104
(g.3190C>T)
Not pathogenic
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EX3
N-Term |
Kirby J, 2010
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7
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TARDBP Lys137
(g.11120A>G)
Not pathogenic
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EX4
RRM1 |
Kirby J, 2010
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8
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TARDBP Asp169Gly
(g.5109A>G)
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EX4
RRM1 |
Kabashi E, 2008
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9
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TARDBP Tyr214
(g.6800C>T)
Not pathogenic
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EX5
RRM2 |
Gijselinck I, 2009
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10
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TARDBP Lys263Glu
(g.8469A>G)
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EX6
Gly-Rich |
Kovacs GG, 2009
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11
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TARDBP Asn267Ser
(g.8482A>G)
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EX6
Gly-Rich |
Corrado L, 2009
Borroni B, 2009
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12
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TARDBP Gly287Ser
(g.8541G>A)
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EX6
Gly-Rich |
Kabashi E, 2008
Corrado L, 2009
Kirby J, 2010
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13
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TARDBP Gly290Ala
(g.8551G>C)
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EX6
Gly-Rich |
Van Deerlin VM, 2008
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14
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TARDBP Gly294Ala
(g.8563G>C)
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EX6
Gly-Rich |
Sreedharan J, 2008
Pamphlett R, 2009
Luquin N, 2009
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15
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TARDBP Gly294Val
(g.8563G>T)
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EX6
Gly-Rich |
Corrado L, 2009
Del Bo R, 2009
Williams KL, 2009
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16
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TARDBP Gly295Ser
(g.8565G>A)
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EX6
Gly-Rich |
Benajiba L, 2009
Corrado L, 2009
Del Bo R, 2009
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17
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TARDBP Gly295Arg
(g.8565G>C)
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EX6
Gly-Rich |
Corrado L, 2009
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18
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TARDBP Gly298Ser
(g.8574G>A)
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EX6
Gly-Rich |
Van Deerlin VM, 2008
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19
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TARDBP Ala315Thr
(g.8625G>A)
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EX6
Gly-Rich |
Gitcho MA, 2008
Kabashi E, 2008
Gitcho MA, 2008
Cairns NJ, 2010
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20
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TARDBP Ala315
(g.8627G>A)
Not pathogenic
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EX6
Gly-Rich |
Kabashi E, 2008
Benajiba L, 2009
Corrado L, 2009
Guerreiro RJ, 2009
Bäumer D, 2009
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21
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TARDBP Ala321Gly
(g.8644C>G)
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EX6
Gly-Rich |
Bäumer D, 2009
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22
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TARDBP Ala321Val
(g.8644C>T)
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EX6
Gly-Rich |
Kirby J, 2010
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23
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TARDBP Gln331Lys
(g.8673C>A)
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EX6
Gly-Rich |
Sreedharan J, 2008
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24
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TARDBP Ser332Asn
(g.8677G>A)
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EX6
Gly-Rich |
Corrado L, 2009
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25
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TARDBP Gly335Asp
(g.8686G>A)
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EX6
Gly-Rich |
Corrado L, 2009
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26
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TARDBP Met337Val
(g.8691A>G)
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EX6
Gly-Rich |
Sreedharan J, 2008
Rutherford NJ, 2008
Corrado L, 2009
Kirby J, 2010
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27
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TARDBP Gln343Arg
(g.8710A>G)
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EX6
Gly-Rich |
Yokoseki A, 2008
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28
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TARDBP Asn345Lys
(g.8717C>A)
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EX6
Gly-Rich |
Rutherford NJ, 2008
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29
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TARDBP Gly348Cys
(g.8724G>T)
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EX6
Gly-Rich |
Kabashi E, 2008
Kühnlein P, 2008
Daoud H, 2009
Del Bo R, 2009
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30
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TARDBP Gly348Val
(g.8725G>T)
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EX6
Gly-Rich |
Kirby J, 2010
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31
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TARDBP Asn352Ser
(g.8737A>G)
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EX6
Gly-Rich |
Kühnlein P, 2008
Kamada M, 2009
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32
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TARDBP Asn352
(g.8738T>C)
Not pathogenic
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EX6
Gly-Rich |
Guerreiro RJ, 2009
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33
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TARDBP Arg361Ser
(g.8765G>T)
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EX6
Gly-Rich |
Kabashi E, 2008
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34
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TARDBP Pro363Ala
(g.8769C>G)
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EX6
Gly-Rich |
Daoud H, 2009
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35
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TARDBP Ala366
(g.8780C>G)
Not pathogenic
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EX6
Gly-Rich |
Kamada M, 2009
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36
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TARDBP Tyr374X
(g.8804T>A)
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EX6
C-Term |
Daoud H, 2009
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37
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TARDBP Ser379Pro
(g.8817T>C)
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EX6
C-Term |
Corrado L, 2009
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38
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TARDBP Ser379Cys
(g.8818C>G)
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EX6
C-Term |
Corrado L, 2009
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39
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TARDBP Ala382Thr
(g.8826G>A)
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EX6
C-term |
Kabashi E, 2008
Corrado L, 2009
Del Bo R, 2009
Chiò A, 2011
Orrù S, 2012
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40
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TARDBP Ala382Pro
(g.8826G>C)
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EX6
C-term |
Daoud H, 2009
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41
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TARDBP Ile383Val
(g.8829A>G)
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EX6
C-term |
Rutherford NJ, 2008
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42
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TARDBP Asn390Asp
(g.8850A>G)
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EX6
C-Term |
Kabashi E, 2008
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43
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TARDBP Asn390Ser
(g.8851A>G)
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EX6
C-Term |
Kabashi E, 2008
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44
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TARDBP Ser393Leu
(g.8860C>T)
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EX6
C-Term |
Corrado L, 2009
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Selection: Gene = TARDBP
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